Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000503791 [[28712642, 28713224], [28748408, 28748530], [28750629, 28750696], [28752001, 28752072], [28771321, 28771483], [28794367, 28794515], [28830428, 28830676], [28834583, 28834688], [28835537, 28835595], [28840851, 28841013], [28841231, 28841348], [28841436, 28841538], [28844837, 28845003], [28846117, 28846450]] None
ENST00000380958 [[28712642, 28713224], [28748408, 28748530], [28750629, 28750696], [28752001, 28752072], [28771321, 28771483], [28794367, 28794515], [28830428, 28830676], [28834583, 28834688], [28835537, 28835595], [28840851, 28841013], [28841231, 28841348], [28841436, 28841538], [28844837, 28845003], [28846117, 28846208], [28851373, 28851513], [28854548, 28854678], [28855451, 28855516], [28862120, 28862259], [28866518, 28866676]] [[28712794, 28713224], [28748408, 28748530], [28750629, 28750696], [28752001, 28752072], [28771321, 28771483], [28794367, 28794515], [28830428, 28830676], [28834583, 28834688], [28835537, 28835595], [28840851, 28841013], [28841231, 28841348], [28841436, 28841538], [28844837, 28845003], [28846117, 28846208], [28851373, 28851513], [28854548, 28854678], [28855451, 28855516], [28862120, 28862259], [28866518, 28866659]]
ENST00000399613 [[28713169, 28713224], [28748408, 28748530], [28750629, 28750696], [28752001, 28752072], [28794367, 28794515], [28830428, 28830676], [28834583, 28834688], [28835537, 28835595], [28840851, 28841013], [28841231, 28841348], [28841436, 28841538], [28844837, 28845003], [28846117, 28846208], [28851373, 28851513], [28854548, 28854678], [28855451, 28855516], [28862120, 28862259], [28866518, 28869472]] [[28748416, 28748530], [28750629, 28750696], [28752001, 28752072], [28794367, 28794515], [28830428, 28830676], [28834583, 28834688], [28835537, 28835595], [28840851, 28841013], [28841231, 28841348], [28841436, 28841538], [28844837, 28845003], [28846117, 28846208], [28851373, 28851513], [28854548, 28854678], [28855451, 28855516], [28862120, 28862259], [28866518, 28866659]]
ENST00000282391 [[28813769, 28813833], [28830428, 28830676], [28834583, 28834688], [28835537, 28835595], [28840851, 28841013], [28841231, 28841348], [28841436, 28841538], [28844837, 28845003], [28846117, 28846208], [28851373, 28851513], [28854548, 28854678], [28855451, 28855516], [28862120, 28862259], [28866518, 28869475]] [[28813769, 28813833], [28830428, 28830676], [28834583, 28834688], [28835537, 28835595], [28840851, 28841013], [28841231, 28841348], [28841436, 28841538], [28844837, 28845003], [28846117, 28846208], [28851373, 28851513], [28854548, 28854678], [28855451, 28855516], [28862120, 28862259], [28866518, 28866659]]
ENST00000483842 [[28813693, 28814174], [28830428, 28830676]] None
NM_175854 [[28712642, 28713224], [28748408, 28748530], [28750629, 28750696], [28752001, 28752072], [28771321, 28771483], [28794367, 28794515], [28830428, 28830676], [28834583, 28834688], [28835537, 28835595], [28840851, 28841013], [28841231, 28841348], [28841436, 28841538], [28844837, 28845003], [28846117, 28846208], [28851373, 28851513], [28854548, 28854678], [28855451, 28855516], [28862120, 28862259], [28866518, 28869475]] [[28712794, 28713224], [28748408, 28748530], [28750629, 28750696], [28752001, 28752072], [28771321, 28771483], [28794367, 28794515], [28830428, 28830676], [28834583, 28834688], [28835537, 28835595], [28840851, 28841013], [28841231, 28841348], [28841436, 28841538], [28844837, 28845003], [28846117, 28846208], [28851373, 28851513], [28854548, 28854678], [28855451, 28855516], [28862120, 28862259], [28866518, 28866659]]
Promoter
Chrom Start End Description
chr13 28712299 28712376 CAGE_peak_1_at_PAN3_5end
chr13 28712383 28712394 CAGE_peak_9_at_PAN3_5end
chr13 28712408 28712419 CAGE_peak_20_at_PAN3_5end
chr13 28712421 28712432 CAGE_peak_12_at_PAN3_5end
chr13 28712444 28712458 CAGE_peak_5_at_PAN3_5end
chr13 28712466 28712477 CAGE_peak_6_at_PAN3_5end
chr13 28712614 28712703 CAGE_peak_2_at_PAN3_5end
chr13 28712705 28712731 CAGE_peak_3_at_PAN3_5end
chr13 28712827 28712854 CAGE_peak_4_at_PAN3_5end
chr13 28813645 28813656 CAGE_peak_25_at_PAN3_5end
chr13 28867552 28867558 CAGE_peak_10_at_PAN3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I027137 27137376 27139195 0.93 [{'connected_gene': 'RPL21', 'score': 23.96}, {'connected_gene': 'SNORA27', 'score': 22.2}, {'connected_gene': 'USP12', 'score': 19.92}, {'connected_gene': 'USP12-AS2', 'score': 17.53}, {'connected_gene': 'PAN3', 'score': 13.68}, {'connected_gene': 'SNORD102', 'score': 10.88}, {'connected_gene': 'LINC00412', 'score': 10.32}, {'connected_gene': 'RASL11A', 'score': 9.97}, {'connected_gene': 'USP12-AS1', 'score': 0.39}]
chr13 GH13I027250 27250234 27254322 2.25 [{'connected_gene': 'RPL21', 'score': 550.77}, {'connected_gene': 'GC13M027245', 'score': 550.77}, {'connected_gene': 'LINC02340', 'score': 550.77}, {'connected_gene': 'USP12', 'score': 14.05}, {'connected_gene': 'WASF3', 'score': 13.82}, {'connected_gene': 'PAN3', 'score': 12.72}, {'connected_gene': 'SNORA27', 'score': 12.12}, {'connected_gene': 'MTIF3', 'score': 4.61}, {'connected_gene': 'PIR55933', 'score': 0.77}]
chr13 GH13I027617 27617884 27623193 2.27 [{'connected_gene': 'POLR1D', 'score': 581.68}, {'connected_gene': 'LNX2', 'score': 565.3}, {'connected_gene': 'PAN3', 'score': 25.31}, {'connected_gene': 'RNU6-63P', 'score': 0.12}]
chr13 GH13I027915 27915302 27916621 0.38 [{'connected_gene': 'PAN3', 'score': 5.16}, {'connected_gene': 'PDX1', 'score': 0.77}, {'connected_gene': 'PLUT', 'score': 0.44}, {'connected_gene': 'LOC105370130', 'score': 0.39}]
chr13 GH13I028126 28126152 28126176 0.22 [{'connected_gene': 'PAN3', 'score': 0.39}, {'connected_gene': 'CHCHD2P8', 'score': 0.37}]
chr13 GH13I028423 28422401 28423865 1.16 [{'connected_gene': 'PAN3', 'score': 1.73}, {'connected_gene': 'POMP', 'score': 1.67}, {'connected_gene': 'GC13M028385', 'score': 0.28}, {'connected_gene': 'FLT1', 'score': 0.19}]
chr13 GH13I027151 27151489 27152745 0.7 [{'connected_gene': 'PAN3', 'score': 11.15}, {'connected_gene': 'RASL11A', 'score': 5.12}, {'connected_gene': 'USP12', 'score': 0.37}, {'connected_gene': 'USP12-AS1', 'score': 0.31}]
chr13 GH13I028301 28301317 28302553 0.31 [{'connected_gene': 'PAN3', 'score': 4.29}, {'connected_gene': 'GC13M028298', 'score': 0.77}, {'connected_gene': 'GC13P028308', 'score': 0.44}, {'connected_gene': 'FLT1', 'score': 0.08}]
chr13 GH13I028258 28258544 28258693 0.38 [{'connected_gene': 'PAN3', 'score': 11.58}, {'connected_gene': 'RNU6-82P', 'score': 11.54}, {'connected_gene': 'GC13P028239', 'score': 0.37}, {'connected_gene': 'GC13M028296', 'score': 0.28}]
chr13 GH13I028015 28015929 28016227 0.24 [{'connected_gene': 'PAN3', 'score': 11.26}, {'connected_gene': 'PLUT', 'score': 10.47}, {'connected_gene': 'PDX1', 'score': 10.47}, {'connected_gene': 'FLT3', 'score': 2.32}, {'connected_gene': 'PIR32072', 'score': 0.34}, {'connected_gene': 'KATNBL1P1', 'score': 0.23}]
chr13 GH13I028530 28530786 28533746 1.44 [{'connected_gene': 'PAN3', 'score': 36.64}, {'connected_gene': 'PAN3-AS1', 'score': 29.09}, {'connected_gene': 'FLT1', 'score': 12.65}, {'connected_gene': 'POMP', 'score': 10.44}, {'connected_gene': 'POLR1D', 'score': 10.26}, {'connected_gene': 'EEF1A1P3', 'score': 10.23}, {'connected_gene': 'ENSG00000279393', 'score': 0.28}, {'connected_gene': 'LOC105370135', 'score': 0.26}]
chr13 GH13I028136 28136859 28142939 2.24 [{'connected_gene': 'PAN3', 'score': 567.12}, {'connected_gene': 'PAN3-AS1', 'score': 559.17}, {'connected_gene': 'RNU6-82P', 'score': 11.85}, {'connected_gene': 'SNORA27', 'score': 10.86}, {'connected_gene': 'POLR1D', 'score': 10.75}, {'connected_gene': 'EEF1A1P3', 'score': 9.82}]
chr13 GH13I028160 28160818 28162600 1.07 [{'connected_gene': 'PAN3', 'score': 18.32}, {'connected_gene': 'PAN3-AS1', 'score': 5.96}, {'connected_gene': 'EEF1A1P3', 'score': 0.23}]
chr13 GH13I028251 28251401 28252000 0.38 [{'connected_gene': 'PAN3', 'score': 16.49}, {'connected_gene': 'GC13P028239', 'score': 0.39}, {'connected_gene': 'GC13M028296', 'score': 0.26}]
chr13 GH13I028268 28268285 28269938 0.8 [{'connected_gene': 'PAN3', 'score': 17.97}, {'connected_gene': 'GC13M028296', 'score': 0.31}, {'connected_gene': 'GC13P028239', 'score': 0.31}]
chr13 GH13I028037 28037529 28037671 0.5 [{'connected_gene': 'FLT3', 'score': 20.39}, {'connected_gene': 'PAN3', 'score': 1.27}, {'connected_gene': 'KATNBL1P1', 'score': 0.31}, {'connected_gene': 'PIR32072', 'score': 0.26}]
chr13 GH13I028031 28031245 28032277 0.91 [{'connected_gene': 'FLT3', 'score': 30.44}, {'connected_gene': 'PAN3', 'score': 11.37}, {'connected_gene': 'PIR32072', 'score': 0.28}, {'connected_gene': 'KATNBL1P1', 'score': 0.28}]
chr13 GH13I028041 28041535 28041804 0.47 [{'connected_gene': 'FLT3', 'score': 5.79}, {'connected_gene': 'PAN3', 'score': 1.64}, {'connected_gene': 'KATNBL1P1', 'score': 0.31}, {'connected_gene': 'PIR32072', 'score': 0.25}]
chr13 GH13I028523 28523891 28524285 0.98 [{'connected_gene': 'FLT1', 'score': 12.56}, {'connected_gene': 'POMP', 'score': 10.6}, {'connected_gene': 'PAN3', 'score': 1.17}, {'connected_gene': 'ENSG00000279393', 'score': 0.31}, {'connected_gene': 'LOC105370135', 'score': 0.23}]
chr13 GH13I028391 28391573 28395309 1.15 [{'connected_gene': 'FLT1', 'score': 11.45}, {'connected_gene': 'POMP', 'score': 10.93}, {'connected_gene': 'PAN3', 'score': 1.4}, {'connected_gene': 'GC13M028385', 'score': 0.44}]
chr13 GH13I028471 28471509 28471719 0.29 [{'connected_gene': 'FLT1', 'score': 11.83}, {'connected_gene': 'PAN3', 'score': 1.25}, {'connected_gene': 'GC13M028385', 'score': 0.18}]
chr13 GH13I028467 28467972 28469000 1.18 [{'connected_gene': 'FLT1', 'score': 12.01}, {'connected_gene': 'PAN3', 'score': 1.14}, {'connected_gene': 'GC13M028385', 'score': 0.18}]
chr13 GH13I028573 28573676 28575873 1.48 [{'connected_gene': 'LOC105370135', 'score': 550.77}, {'connected_gene': 'POMP', 'score': 13.52}, {'connected_gene': 'FLT1', 'score': 11.84}, {'connected_gene': 'PAN3', 'score': 4.51}, {'connected_gene': 'ENSG00000279393', 'score': 0.18}]
chr13 GH13I028181 28181564 28181713 0.38 [{'connected_gene': 'EEF1A1P3', 'score': 0.29}, {'connected_gene': 'PAN3', 'score': 0.26}, {'connected_gene': 'PAN3-AS1', 'score': 0.26}]
chr13 GH13I028151 28151176 28151545 0.24 [{'connected_gene': 'PAN3-AS1', 'score': 5.62}, {'connected_gene': 'PAN3', 'score': 2.5}, {'connected_gene': 'EEF1A1P3', 'score': 0.21}]
chr13 GH13I028294 28294315 28294517 0.4 [{'connected_gene': 'GC13M028296', 'score': 550.77}, {'connected_gene': 'POMP', 'score': 10.12}, {'connected_gene': 'GC13P028239', 'score': 0.23}, {'connected_gene': 'PAN3', 'score': 0.1}]
chr13 GH13I028237 28237804 28238352 0.2 [{'connected_gene': 'GC13P028239', 'score': 550.77}, {'connected_gene': 'RNU6-82P', 'score': 0.44}, {'connected_gene': 'PAN3', 'score': 0.15}]